Proband information



Proband id 4850
Systematic Name c.806delG
Protein name p.Gly269fs
Mutation type frameshift insertion or deletion
Domain TRD-NLS
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity
Detection DGGE, ECMA
Extent exons 3 and 4 only
Source of DNA blood
Carrier N
Carrier result
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id Reference
1 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 21 :Bunyan, D.::
2 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Unknown Rett syndrome-Not certain 137 Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854
3 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 308 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
4 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 309 MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features:Auranen, M., Vanhala, MD, Vosman, M., Levander, M., Varilo, T., Hietala, M., Riikonen, R., Peltonen, L., Järvelä, I.:Neurology: 11245712
5 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 342 Preserved speech variant is allelic of classic Rett syndrome:De Bona, Cristina, Zappella, Michele, Hayek, Giuseppe, Meloni, Ilaria, Vitelli, Francesca, Bruttini, Mirella, Cusano, Roberto, Loffredo, Paola, Longo, Ilaria, Renieri, Alessandra:European Journal of Human Genetics: 10854091
6 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 472 :::
7 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1113 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
8 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1114 Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms:Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y. and Roa, Benjamin B.:American Journal of Human Genetics: 11055898
9 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1148 MeCP2 mutation in non-fatal, non-progressive encephalopathy in a male:Imessaoudene, Belaïd, Bonnefont, Jean-Paul, Royer, Ghislaine, Cormier-Daire, Valérie, Lyonnet, Stanislas, Lyon, Gilles, Munnich, Arnold, Amiel, Jeanne:Journal of Medical Genetics: 11238684
10 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1426 DHPLC analysis of the MECP2 gene in Italian Rett patients:Nicolao, Piero, Carella, Massimo, Giometto, Bruno, Tavolato, Bruno, Cattin, Riccardo, Giovannucci-Uzielli, Maria Luisa, Vacca, Marcella, Regione, Floriana Della, Piva, Stefania, Bortoluzzi, Stefania, Gasparini, Paolo:Human mutation: 11462237
11 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1452 Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females:Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Mercadante, Grazia, Manzati, Alberta, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, MacDonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hultén, Maj:Journal of Molecular Medicine: 11269512
12 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1495 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
13 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1496 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
14 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Rett synd. 1497 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
15 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 1498 Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots:Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F. M., Zoghbi, Huda Y., Schanen, N. Carolyn and Francke, Uta:American Journal of Human Genetics: 10577905
16 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1618 :Bunyan, D.::
17 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1680 :Friez, Michael::
18 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1702 :Friez, Michael::
19 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1744 :Friez, Michael::
20 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 1812 :Friez, Michael::
21 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1843 :Bunyan, D.::
22 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1896 :::
23 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 1897 :::
24 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-atypical 1926 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
25 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 1965 Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome:Schanen, C., Houwink, EJ., Dorrani, N., Lane, J., Everett, R., Feng, A., Cantor, RM. and Percy, A:American Journal of Medical Genetics: 15057977
26 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 1981 Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation:V. Leuzzi, M.L. Di Sabato, M. Zollino, M.L. Montanaro, and S. Seri:Neurology: 15557528
27 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Not Known 2010 :::
28 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Known 2060 :::
29 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2095 :Cardiff, UK::
30 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Not certain 2096 :Cardiff, UK::
31 c.806delG p.Gly269fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2097 :Cardiff, UK::
32 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2604 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
33 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-Classical 2605 Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578
34 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 2794 Early progressive encephalopathy in boys and MECP2 mutations:Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C.M., Dure, L.S., IV, Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W.E., Ravine, D., Percy, A.K.:Neurology: 16832102
35 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3007 MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643
36 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3268 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
37 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3269 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
38 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3270 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
39 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3271 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
40 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3272 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
41 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3273 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
42 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3274 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
43 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3598 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
44 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3599 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
45 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3600 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
46 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3601 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
47 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3602 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
48 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3603 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
49 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 3604 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
50 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 3765 Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703
51 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4071 Spectrum of MECP2 mutations in Rett syndrome:Lee SSJ, Wan M, Francke U:Brain & Development: 11738860
52 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4707 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487
53 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 4850 MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders:Psoni, S., Sofocleous, C., Traeger-Synodinos, J., Kitsiou-Tzeli, S., Kanavakis, E., Fryssira-Kanioura, H.:Brain & Development: 21982064
54 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 4915 Genetic and epileptic features in Rett syndrome:Kim, H.J., Kim, S.H., Kim, H.D., Lee, J.S., Lee, Y.-M., Koo, K.Y., Lee, J.S., Kang, H.-C.:Yonsei Med J: 22476991
55 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5064 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
56 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-not certain 5065 Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346
57 c.806delG p.Gly269Alafs*20 frameshift insertion or deletion NLS Mutation associated with disease Female Rett syndrome-preserved speech 6744 MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype–phenotype correlations and validation of high-resolution melting analysis for mutation scanning:Daniela Zahorakova,Petra Lelkova,Vladimir Gregor,Martin Magner,Jiri Zeman and Pavel Martasek:Journal of Human Genetics: 26984561
58 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6610 :::
59 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6609 :::
60 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6608 :::
61 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Male Not Rett synd. 6607 :::
62 c.806delG p.Gly269fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6606 :::
63 c.806delG p.Gly269fs nonsense TRD-NLS Mutation associated with disease Female Rett syndrome-classical 6578 :::